Protein misfolding and clearance in demyelinating peripheral neuropathies
نویسندگان
چکیده
منابع مشابه
Electrodiagnosis of demyelinating neuropathies.
The inflammatory demyelinating neuropathies constitute a significant proportion of the acquired polyneuropathies. Major progress in finding the causes and in the treatment of these neuropathies has been made over the last decade. Early recognition is of paramount importance, because timely and appropriate treatment can largely reduce morbidity and disability. Electrodiagnosis plays a key role i...
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The prenatal and infantile neuropathies are an uncommon and complex group of conditions, most of which are genetic. Despite advances in diagnostic techniques, approximately half of children presenting in infancy remain without a specific diagnosis. This review focuses on inherited demyelinating neuropathies presenting in the first year of life. We clarify the nomenclature used in these disorder...
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The past 15 years have witnessed the identification of more than 25 genes responsible for inherited neuropathies in humans, many associated with primary alterations of the myelin sheath. A remarkable body of work in patients, as well as animal and cellular models, has defined the clinical and molecular genetics of these illnesses and shed light on how mutations in associated genes produce the h...
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Hereditary motor and sensory neuropathies (HMSN) comprise a wide clinical spectrum of related disorders with defects in peripheral nerve myelination. More than 250 distinct mutations of the peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ/P0), and connexin 32 (Cx32/GJB1) genes have been reported in patients diagnosed with different forms of hereditary motor and sensory neuropathie...
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ژورنال
عنوان ژورنال: Communicative & Integrative Biology
سال: 2012
ISSN: 1942-0889
DOI: 10.4161/cib.18638